| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129933566, PKDCC (E181V) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC129933566, PKDCC (G183E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129933566, PKDCC (V184A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129933566, PKDCC (L196V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene